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Smith-McCort dysplasia
Monday 6 October 2003
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.
Etiology
mutations in the FLJ90130 gene (12491225) (18q12)
